What is Krabbe disease? The krabbe disease is a genetic disorder on the nervous system. Is also known as the globoid cell. A defect in the GALC gene causes the Krabbe disease. People with this gene defect can't make enough substance called galactosylceramidase. The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. The globoid cells make molecules called galactolipids. Without GALC, the galactolipids will accumulate in the brain. Physchosine is a type of galactolipid, and it's the one more suspected that causes the most damage in Krabbe disease.
Symptoms and Treatment This disease have symptoms for example blindness, deafness, vomiting, feeding difficulties and more. Symptoms vary from person to person. Some people have had a bone marrow transplant but this treatment has risks. Like bleeding, infections, anemia and more serious problems. But there are no more treatments for this disease. The krabbe disease is a permanent disease so it has no cure. Its found on the chromosome 14.
Forms of Krabbe disease There are two forms of Krabbe disease: Early-onset and Late-onset. Early-onset appears in the first month of life. Most childrens die before the age of two. Late-onset appears in late childhood or early adolescence. In the late-onset, the first symptom that will appear is blindness and then walking difficulties. How can the Krabbe disease be caused?
The Krabbe disease can be caused by a defective gene that has been given from both parents. But if both parents have the defective gene, their child might have the Krabbe disease. If both parents are the carriers of the defective gene, their children will have 25% risk of having the disorder. If the child gets the gene from only one parent, the child will be carrier but will never have symptoms or get the disease.
A person's brain that has the Krabbe disease.
The difference of a early-onset brain and a late-onset brain.
What is Krabbe disease?
The krabbe disease is a genetic disorder on the nervous system. Is also known as the globoid cell. A defect in the GALC gene causes the Krabbe disease. People with this gene defect can't make enough substance called galactosylceramidase. The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. The globoid cells make molecules called galactolipids. Without G
Symptoms and Treatment
This disease have symptoms for example blindness, deafness, vomiting, feeding difficulties and more. Symptoms vary from person to person. Some people have had a bone marrow transplant but this treatment has risks. Like bleeding, infections, anemia and more serious problems. But there are no more treatments for this disease. The krabbe disease is a permanent disease so it has no cure. Its found on the chromosome 14.
Forms of Krabbe disease
There are two forms of Krabbe disease: Early-onset and Late-onset. Early-onset appears in the first month of life. Most childrens die before the age of two. Late-onset appears in late childhood or early adolescence. In the late-onset, the first symptom that will
appear is blindness and then walking difficulties.
How can the Krabbe disease be caused?
The Krabbe disease can be caused by a defective gene that has been given from both parents. But if both parents have the defective gene, their child might have the Krabbe disease. If both parents are the carriers of the defective gene, their children will have 25% risk of having the disorder. If the child gets the gene from only one parent, the child will be carrier but will never have symptoms or get the disease.
A person's brain that has the Krabbe disease.
The difference of a early-onset brain and a late-onset brain.
Resources:
Information:
"Krabbe Disease." Yahoo Health. A.D.A.M, 2005. Web. 6 Jan. 2011. <http://health.yahoo.net/channel/krabbe-disease.html>.
"Krabbe disease." Mayo Clinic. Mayo Clinic, 12 June 2009. Web. 12 Jan. 2011. <http://www.mayoclinic.com/health/krabbe-disease/DS00937/DSECTION=causes>.
Photos:
http://www.storyofjudson.com/krabbe-disease
http://cornellbiochem.wikispaces.com/file/view/krabbes_disease.jpg/126641847/krabbes_disease.jpg
http://pathology.mc.duke.edu/neuropath/CNSlecture4/krabbe.jpg
http://www.ajnr.org/content/vol20/issue2/images/large/i0195-6108-020-02-0316-f04.jpeg